Anencephaly: A case report and the crucial role of folic acid supplementation and early diagnosis

Abstract

Anencephaly is a congenital malformation caused by neural tube failure, which can be managed through folic acid intake during pregnancy. Diagnosis is typically prenatal, and termination of pregnancy is often recommended. A newborn born at Kolwezi paediatric clinic was born with a visible congenital malformation. The mother had a low socio-economic background and was 41 years old. An ultrasound scan revealed a progressing pregnancy at 30 weeks gestation with polyhydramnios. No antenatal care monitoring or folic acid prophylaxis was implemented during the periconceptional period and throughout the pregnancy. Anencephaly diagnosis was confirmed, and the newborn died five minutes post-birth. Preventive folic acid treatment has shown a decrease in neural tube defects, and first-trimester ultrasound scans can help identify life-incompatible congenital malformations. Advocating for legislative measures and genetic counselling is crucial to educate parents on recurrence risks and the advantages of folic acid supplementation before subsequent pregnancies.